Splicing mutations in human genetic disorders: examples, detection, and confirmation
A Anna, G Monika - Journal of applied genetics, 2018 - Springer
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the
presence of consensus “cis” sequences that define exon-intron boundaries and regulatory …
presence of consensus “cis” sequences that define exon-intron boundaries and regulatory …
Exposing synonymous mutations
RC Hunt, VL Simhadri, M Iandoli, ZE Sauna… - Trends in Genetics, 2014 - cell.com
Synonymous codon changes, which do not alter protein sequence, were previously thought
to have no functional consequence. Although this concept has been overturned in recent …
to have no functional consequence. Although this concept has been overturned in recent …
Origin and evolution of spliceosomal introns
Evolution of exon-intron structure of eukaryotic genes has been a matter of long-standing,
intensive debate. The introns-early concept, later rebranded 'introns first'held that protein …
intensive debate. The introns-early concept, later rebranded 'introns first'held that protein …
[HTML][HTML] Alternative splicing and disease
J Tazi, N Bakkour, S Stamm - … et Biophysica Acta (BBA)-Molecular Basis of …, 2009 - Elsevier
Almost all protein-coding genes are spliced and their majority is alternatively spliced.
Alternative splicing is a key element in eukaryotic gene expression that increases the coding …
Alternative splicing is a key element in eukaryotic gene expression that increases the coding …
The pathobiology of splicing
AJ Ward, TA Cooper - The Journal of Pathology: A Journal of …, 2010 - Wiley Online Library
Ninety‐four percent of human genes are discontinuous, such that segments expressed as
mRNA are contained within exons and separated by intervening segments, called introns …
mRNA are contained within exons and separated by intervening segments, called introns …
How did alternative splicing evolve?
G Ast - Nature Reviews Genetics, 2004 - nature.com
Alternative splicing creates transcriptome diversification, possibly leading to speciation. A
large fraction of the protein-coding genes of multicellular organisms are alternatively spliced …
large fraction of the protein-coding genes of multicellular organisms are alternatively spliced …
Differential GC content between exons and introns establishes distinct strategies of splice-site recognition
M Amit, M Donyo, D Hollander, A Goren, E Kim… - Cell reports, 2012 - cell.com
During evolution segments of homeothermic genomes underwent a GC content increase.
Our analyses reveal that two exon-intron architectures have evolved from an ancestral state …
Our analyses reveal that two exon-intron architectures have evolved from an ancestral state …
Comprehensive splice-site analysis using comparative genomics
We have collected over half a million splice sites from five species—Homo sapiens, Mus
musculus, Drosophila melanogaster, Caenorhabditis elegans and Arabidopsis thaliana …
musculus, Drosophila melanogaster, Caenorhabditis elegans and Arabidopsis thaliana …
Pick one, but be quick: 5′ splice sites and the problems of too many choices
X Roca, AR Krainer, IC Eperon - Genes & development, 2013 - genesdev.cshlp.org
Splice site selection is fundamental to pre-mRNA splicing and the expansion of genomic
coding potential. 5′ Splice sites (5′ ss) are the critical elements at the 5′ end of introns …
coding potential. 5′ Splice sites (5′ ss) are the critical elements at the 5′ end of introns …
Position-dependent alternative splicing activity revealed by global profiling of alternative splicing events regulated by PTB
M Llorian, S Schwartz, TA Clark, D Hollander… - Nature structural & …, 2010 - nature.com
To gain global insights into the role of the well-known repressive splicing regulator PTB, we
analyzed the consequences of PTB knockdown in HeLa cells using high-density …
analyzed the consequences of PTB knockdown in HeLa cells using high-density …